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  1. cutis aplasia congenita and amniotic band syndrome

    I have read the phenotype description of a child with aplasia cutis congenita as well as transverse limb defects; although this association is not common it is the presentation of Adams Oliver syndrome [OMIM 100300]; in this condition both manifestations are present and often the limb defects resemble the damage caused by the amniotic band sequence. The identification is important as patients with Adams Oliver have an identifiable genetic etiology as well as are at risk of further medical issues ivcluding congenital heart defects; neuronal migration disorders; ocular manifestations etc

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